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Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most frequently inherited renal diseases caused by mutations in PKD1 and PKD2. We performed mutational analyses of PKD genes in 49 unrelated patients using direct PCR-sequencing and multiplex ligation-dependent probe amplification (M...

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Publicat a:Sci Rep
Autors principals: Liu, Bei, Chen, Song-Chang, Yang, Yan-Mei, Yan, Kai, Qian, Ye-Qing, Zhang, Jun-Yu, Hu, Yu-Ting, Dong, Min-Yue, Jin, Fan, Huang, He-Feng, Xu, Chen-Ming
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4668380/
https://ncbi.nlm.nih.gov/pubmed/26632257
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep17468
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